List of variants in gene NDUFS7 studied for Mitochondrial complex I deficiency, nuclear type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)	rs1142530	0.52046
NM_024407.5(NDUFS7):c.408+10G>T	rs2074896	0.05515
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)	rs140236960	0.00196
NM_024407.5(NDUFS7):c.*16C>T	rs573586959	0.00069
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)	rs375120743	0.00016
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)	rs147710123	0.00012
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)	rs757488156	0.00007
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)	rs565395435	0.00004
NM_024407.5(NDUFS7):c.455+13C>T	rs376025020	0.00004
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met)	rs368174338	0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)	rs775410920	0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly)	rs775856806	0.00003
NM_024407.5(NDUFS7):c.*8G>A	rs756081375	0.00001
NM_024407.5(NDUFS7):c.*94G>A	rs1329105128	0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)	rs201222388	0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)	rs1193585808	0.00001
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)	rs144570086

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